A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837512



Internal ID15081891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:22514247..22514248hg38UCSC Ensembl
Innerchr4:22514221..22514274hg38UCSC Ensembl
Outerchr4:22514220..22514275hg38UCSC Ensembl
chr4:22515870..22515871hg19UCSC Ensembl
Innerchr4:22515844..22515897hg19UCSC Ensembl
Outerchr4:22515843..22515898hg19UCSC Ensembl
chr4:22124968..22124969hg18UCSC Ensembl
Innerchr4:22124995..22124942hg18UCSC Ensembl
Outerchr4:22124941..22124996hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38149
hg19149
hg18149
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310028
Supporting Variants
SamplesNA19240
Known GenesGPR125
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837512
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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